Richard Steet

MedicineBiochemistry, Genetics and Molecular BiologyChemistry

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 17 papers. Top paper: “O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder”.

O-GlcNAcylation modulates expression and abundance of N-glycosylation machinery in an inherited glycosylation disorder

Cell Reports(2024)10.1016/j.celrep.2024.114976

N/A

0.387DataRank · unranked

10 citations

Sneha S. Mokashi, Silvia Radenkovic, Kali Wiggins, Lynn Dukes‐Rimsky, Peggi M. Angel +6 more

De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.08.015

N/A

0DataRank · unranked

43 citations

Tonya Moss, Hannah W. Moore, Koenraad Devriendt, Heather Flanagan‐Steet, Melanie May +15 more

A Biochemical Platform to Define the Relative Specific Activity of IDUA Variants Identified by Newborn Screening

International Journal of Neonatal Screening(2020)10.3390/ijns6040088

N/A

0DataRank · unranked

5 citations

Laura Pollard, Tim Wood, Heather Flanagan‐Steet, Richard Steet, Seok‐Ho Yu

The translocon-associated protein (TRAP) complex regulates quality control of N-linked glycosylation during ER stress

Science Advances(2021)10.1126/sciadv.abc6364

N/A

0DataRank · unranked

51 citations

Wei Cui, Thomas J. Hayman, Seok‐Ho Yu, Peng Zhao, Lance Wells +3 more

A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.04.013

N/A

0DataRank · unranked

22 citations

Paulina Sosicka, François Fenaille, Annie Harroche, Sandrine Vuillaumier‐Barrot, Mindy Porterfield +27 more

Protease-dependent defects in N-cadherin processing drive PMM2-CDG pathogenesis

JCI Insight(2021)10.1172/jci.insight.153474

N/A

0DataRank · unranked

9 citations

Lynn Dukes‐Rimsky, Brijesh Kumar, Zhi‐Jie Xia, Tammie Dang, Mark A. Lehrman +6 more

Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 Synthase Deficiency variants

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.29.454399

N/A

0DataRank · unranked

0 citations

Shannon K. Wagner, Mayumi Ishihara, Seok‐Ho Yu, Heidi Ulrichs, Michael Kulik +7 more

Phenylbutyrate modulates polyamine acetylase and ameliorates Snyder-Robinson syndrome in a Drosophila model and patient cells

JCI Insight(2022)10.1172/jci.insight.158457

N/A

0DataRank · unranked

17 citations

Yi Zhu, Zoraida Diaz-Perez, Seok‐Ho Yu, Jackson R. Foley, Tracy Murray Stewart +4 more

Evolutionary rescue of phosphomannomutase deficiency in yeast models of human disease

eLife(2022)10.7554/elife.79346

N/A

0DataRank · unranked

15 citations

Mariateresa Allocca, Maria Monticelli, Joy Norris, Richard Steet, Ethan Perlstein +3 more

Experimental evolution of phosphomannomutase-deficient yeast reveals compensatory mutations in a phosphoglucomutase

bioRxiv (Cold Spring Harbor Laboratory)(2022)10.1101/2022.04.06.487342

N/A

0DataRank · unranked

1 citations

Mariateresa Allocca, Maria Monticelli, Joy Norris, Richard Steet, Giuseppina Andreotti +3 more

Neural-specific alterations in glycosphingolipid biosynthesis and cell signaling associated with two human ganglioside GM3 synthase deficiency variants

Human Molecular Genetics(2023)10.1093/hmg/ddad146

N/A

0DataRank · unranked

11 citations

Shannon K. Wagner, Mayumi Ishihara, Seok‐Ho Yu, Heidi Ulrichs, Michael Kulik +7 more

Base editing corrects the common Salla disease SLC17A5 c.115C>T variant

Molecular Therapy — Nucleic Acids(2023)10.1016/j.omtn.2023.08.024

N/A

0DataRank · unranked

10 citations

Chloe Christensen, Shih‐hsin Kan, Allisandra Rha, Perla Andrade-Heckman, Laura Pollard +4 more

Dysregulated lysosomal exocytosis drives protease-mediated cartilage pathogenesis in multiple lysosomal disorders

iScience(2024)10.1016/j.isci.2024.109293

N/A

0DataRank · unranked

12 citations

Tong Wang, Kali Wiggins, Po Nien Lu, Christina Underwood, Katarzyna Ochenkowska +5 more

Functional assessment of IDUA variants of uncertain significance identified by newborn screening

npj Genomic Medicine(2024)10.1038/s41525-024-00457-1

N/A

0DataRank · unranked

4 citations

Francyne Kubaski, Gavin Arno, Whitney Phinney, Tim Wood, Heather Flanagan‐Steet +3 more

Multi-omic analysis of a mucolipidosis II neuronal cell model uncovers involvement of pathways related to neurodegeneration and drug metabolism

Molecular Genetics and Metabolism(2024)10.1016/j.ymgme.2024.108596

N/A

0DataRank · unranked

1 citations

Seok‐Ho Yu, Maxwell B. Colonna, Rony Hull, Jennifer R. Bethard, Lauren E. Ball +3 more

Upregulation of Sortilin, a Lysosomal Sorting Receptor, Corresponds with Reduced Bioavailability of Latent TGFβ in Mucolipidosis II Cells

Biomolecules(2020)10.3390/biom10050670

N/A

0DataRank · unranked

8 citations

Megan Aarnio-Peterson, Joy Norris, Mark E. Haskins, Heather Flanagan‐Steet, Richard Steet +1 more

Lysosomal free sialic acid storage disorder iPSC-derived neural cells display altered glycosphingolipid metabolism

Scientific Reports(2025)10.1038/s41598-025-12682-4

N/A

0DataRank · unranked

2 citations

Vukasin M. Jovanovic, Seungmi Ryu, Chaitali Sen, Pinar Ormanoglu, Laura Pollard +7 more